ClinVar Miner

List of variants in gene EPB42 reported as likely benign for anemia

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001114134.2(EPB42):c.10+19C>T rs77809780 0.02853
NM_001114134.2(EPB42):c.654+7G>A rs72721553 0.01821
NM_001114134.2(EPB42):c.1318+4C>T rs45498491 0.01529
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln) rs114354377 0.00619
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys) rs45594632 0.00285
NM_001114134.2(EPB42):c.894C>T (p.Thr298=) rs35719500 0.00225
NM_001114134.2(EPB42):c.453T>C (p.Asn151=) rs114136713 0.00205
NM_001114134.2(EPB42):c.741C>A (p.Gly247=) rs115626075 0.00182
NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys) rs75424023 0.00133
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=) rs149742998 0.00048
NM_001114134.2(EPB42):c.1779+7A>G rs200770579 0.00014
NM_001114134.2(EPB42):c.1280G>A (p.Arg427His)
NM_001114134.2(EPB42):c.1619-19C>T
NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)
NM_001114134.2(EPB42):c.550-37_550-12dup rs368862301

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